Rare Disease Intelligence

Intellectual disability, autosomal dominant 15, a variant of Coffin-Siris syndrome caused by a mutation in the SMARCB1 gene, primarily affects neurode...

Intellectual disability, autosomal dominant 16 is a condition classified under Coffin-Siris syndromes and is caused by mutations in the SMARCA4 gene,...

Intellectual disability, autosomal dominant 2 is a condition that primarily affects neurodevelopment, leading to global delays in cognitive and langua...

Intellectual disability, autosomal dominant 22 is a neurodevelopmental condition characterized by significant cognitive impairment and multiple distin...

Intellectual disability, autosomal dominant 24 is a neurodevelopmental condition caused by mutations in the DEAF1 gene. It is characterized primarily...

Intellectual disability, autosomal dominant 29 is a complex neurodevelopmental condition that primarily affects brain development and function. It res...

Intellectual disability, autosomal dominant 3 is a neurodevelopmental condition characterized primarily by cognitive challenges that become apparent i...

Intellectual disability, autosomal dominant 33 is a neurodevelopmental disorder caused by mutations in the DPP6 gene. Individuals with this condition...

Intellectual disability, autosomal dominant 34 is a neurodevelopmental condition primarily characterized by global developmental delay and intellectua...

Intellectual disability, autosomal dominant 4 is a neurodevelopmental condition that primarily affects cognitive development and adaptive functioning....

Intellectual disability, autosomal dominant 40 is a neurodevelopmental condition caused by mutations in the CHAMP1 gene. This disorder is characterize...

Intellectual disability, autosomal dominant 42 is a very rare neurodevelopmental condition that primarily affects the brain and nervous system but can...

Intellectual disability, autosomal dominant 43 is a neurodevelopmental condition characterized by global developmental delay, intellectual disability,...

Intellectual disability, autosomal dominant 45 is a neurodevelopmental disorder characterized by significant cognitive and developmental challenges. I...

Intellectual disability, autosomal dominant 46 is a neurodevelopmental condition characterized by significant challenges in cognitive and motor develo...

Intellectual disability, autosomal dominant 47 is a neurodevelopmental condition characterized primarily by significant cognitive impairment and globa...